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Biomedical subjects

R M Goodman

Publications and source records attributed to R M Goodman.

At least 109 records · Page 6Linked to original sources
PubMed1981

Symphalangism with multiple anomalies of the hands and feet: a new genetic trait.

We report a new autosomal dominant condition involving hands and feet of an Arabic father and 5 of his 11 children. This trait is characterized by symphalangism, syndactyly, brachydactyly type D, clinodactyly, and hypoplasia of the thenar and hypothenar eminences. Affected persons had symphalangism and syndactyly plus some or all or part of the other anomalies. Symphalangism, the main defect in this syndrome, showed variable expressivity. A distinct dermatoglyphic pattern was observed in all affected relatives. Linkage studies were done; however, no linkage was demonstrated.

Adult↗
PubMed1981

Isolation and characterization of virus-specific double-stranded DNA from tissues infected by bean golden mosaic virus.

A double-stranded (ds) DNA which may be a replication intermediate was isolated from bean (Phaseolus vulgaris L. "Top Crop") leaves systemically infected with bean golden mosaic virus, a whitefly-transmitted plant virus with a genome of circular single-stranded (ss) DNA. The isolation method used phenol/chloroform extraction, hydroxyapatite column chromatography, and rate-zonal centrifugation. The dsDNA had sequences complementary to those of viral DNA. The guanine-plus-cytosine content was 35%, and the sedimentation coefficient in alkaline sucrose density gradients was similar to that of viral ssDNA. Digestion of the dsDNA by Hha I endonuclease produced fragments that corresponded exactly in number and size with those produced by complete digestion of circular viral ssDNA by Hha I, when the fragments were denatured and analyzed on polyacrylamide gels. The dsDNA molecule was a circular structure with one discontinuity in one strand; hybridization results suggest that some of a the dsDNA has a discontinuity in the viral strand and some has a discontinuity in the nonviral strand. On the basis of these structures for the dsDNA, a preliminary model for replication of viral DNA is discussed.

Journal Article↗
PubMed1981

X-linked recessive primary retinal dysplasia: clinical findings in affected males and carrier females.

Three unrelated families (two Jewish and one Druze) are reported, in which a total of eight males exhibited the ophthalmological findings of primary retinal dysplasia. Since our affects male members only have eye findings, this disorder is readily differentiated from Norrie's disease in which other parts of the nervous system are involved. The family pedigrees along with the clinical features support an X-linked recessive mode of transmission for this condition. Female carriers for this gene may show varying types of retinal fold changes. In addition, most of these same presumed female carriers also demonstrated changes in the stroma of their irides, resulting in a gray to grayish-blue color. At present, it is not possible to state definitely whether or not this latter observation is a feature of the carrier state.

Adult↗
PubMed1981

Anal atresia and the Klein-Waardenburg syndrome.

A 3-month-old male infant with type I Klein-Waardenburg syndrome with an imperforated anus and a perineal fistula is reported. The possible association of this gastrointestinal malformation with the KW syndrome is discussed.

Abnormalities, Multiple↗
PubMed1981

New clinical observations in the trichorhinophalangeal syndrome.

Two unrelated Jewish families are reported with new clinical and radiographic findings observed in the trichorhinophalangeal syndrome (TRPS). These new observations are mainly of a skeletal nature and emphasize the wide range of expressivity found in the TRPS. Furthermore, these bony defects along with the characteristic hair changes suggest that the basic defect in this syndrome involves some developmental alteration in the normal growth and maturation of bone and hair.

Abnormalities, Multiple↗
PubMed1980

The organization of DNA in the mitotic and polytene chromosomes of Sciara corprophila.

The organization of DNA in the mitotic metaphase and polytene chromosomes of the fungus gnat, Sciara coprophila, has been studied using base-specific DNA ligands, including anti-nucleoside antibodies. The DNA of metaphase and polytene chromosomes reacts with AT-specific probes (quinacrine, DAPI, Hoechst 33258 and anti-adenosine) and to a somewhat lesser extent with GC-specific probes (mithramycin, chromomycin A3 and anti-cytidine). In virtually every band of the polytene chromosomes chromomycin A3 fluorescence is almost totally quenched by counterstaining with the AT-specific ligand methyl green. This indicates that GC base pairs in most bands are closely interspersed with AT base pairs. The only exceptions are band IV-8A3 and the nucleolus organizer on the X. In contrast, quinacrine and DAPI fluorescence in every band is only slightly quenched by counterstaining with the GC-specific ligand actinomycin D. Thus, each band contains a moderate proportion of AT-rich DNA sequences with few interspersed GC base pairs. - The C-bands in mitotic and polytene chromosomes can be visualized by Giemsa staining after differential extraction of DNA and those in polytene chromosomes by the use of base-specific fluorochromes or antibodies without prior extraction of DNA. C-bands are located in the centromeric region of every chromosome, and the telomeric region of some. The C-bands in the polytene chromosomes contain AT-rich DNA sequences without closely interspered GC base pairs and lack relatively GC-rich sequences. However, one C-band in the centromeric region of chromosome IV contains relatively GC-rich sequences with closely interspersed AT base pairs. - C-bands make up less than 1% of polytene chromosomes compared to nearly 20% of mitotic metaphase chromosomes. The C-bands in polytene chromosomes are detectable with AT-specific or GC-specific probes while those in metaphase chromosomes are not. Thus, during polytenization there is selective replication of highly At-rich and relatively GC-rich sequences and underreplication of the remainder of the DNA sequences in the constitutive heterochromatin.

Animals↗
PubMed1980

5-methylcytosine in the DNA of the polytene chromosomes of the diptera Sciara coprophila, Drosophila melanogaster and D. persimilis.

5-Methylcytosine has been detected in the DNA of the polytene chromosomes of Sciara coprophila, Drosophila melanogaster and D. persimilis, using specifically purified antibodies to 5-methylcytidine. The 5-methylcytosine is present in GC-rich sequences in the bands. Virtually no 5-methylcytosine is detectable in mitotic metaphase chromosomes of S. coprophila. Thus, methylation is associated with polytenization in these diptera. Restriction enzyme studies using HpaII, MspI, HhaI and AluI indicate that unmethylated 5'-CCGG-3', 5'-GCGC-3' and 5'-AGCT-3' sequences are abundant in polytene chromosome DNA. These sequences are probably not major sites of methylation. Since the DNA in the bands of polytene chromosomes is generally transcriptionally inactive, as well as extensively methylated, these results are consistent with the hypothesis that genes in the bands have been inactivated by a process involving DNA methylation.

5-Methylcytosine↗
PubMed1980

A new white forelock (poliosis) syndrome with multiple congenital malformations in two sibs.

Two Jewish Ashkenazi male sibs are reported as having a new syndrome consisting of a white forelock, distinct facial features associated with congenital malformations involving the eye, cardio-pulmonary and skeletal systems. It is postulated that the etiology of this disorder is genetic and transmitted either as an autosomal recessive or X-linked recessive conditions.

Abnormalities, Multiple↗
PubMed1980

Autosomal recessive peripheral sensory neuropathy in 3 non-Ashkenazi Jewish families.

Three unrelated Oriental Jewish families with a total of eight subjects with progressive hereditary sensory neuropathy are reported. The parents were all unaffected and because of parental consanguinity in each of the three families it is postulated that this rare neurological disorder is transmitted in an autosomal recessive manner. In one family both parents showed an abnormal response to pain stimulation with normal motor and sensory nerve conduction velocity. This response may be an expression of the carrier state for this hereditary disease. Only five other families (non-Jewish) have been reported as having this form of peripheral hereditary sensory neuropathy. These observations suggest that one type, the progressive form, of peripheral hereditary sensory neuropathy may be more common in Oriental Jews.

Adolescent↗
PubMed1979

Genetic studies in a family with inverted nipples (mammillae invertita).

A Jewish Sephardi family is reported in which 16 members are affected (15 females and 1 male) with inverted nipples. The one affected male and his brother also have gynecomastia. Under the assumption that this trait is transmitted as an autosomal dominant, linkage studies were done but were not revealing. Further family and investigative studies are needed in this disorder to understand better its pathogenesis and precise mode of genetic transmission.

Adult↗